Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C4225391
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 		disease 0.700 definitive 1.000 1 18 1993 2017
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.440 None 1.000 0 2 2014 2019
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 1 1 2016 2016
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 14 1 2014 2018
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 14 1 2014 2018
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 14 1 2014 2018
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 2
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 2